scholarly journals Preconception Genetic Counselling in a Filipino Couple with Family History of Trisomy 18

2017 ◽  
Vol 51 (3) ◽  
Author(s):  
Peter James B. Abad ◽  
Mercy Y. Laurino
Keyword(s):  
Family History ◽  
Genetic Counselling ◽  
Pregnancy Outcomes ◽  
Trisomy 18 ◽  
Previous Child ◽  
History Of ◽  
Psychosocial Implications ◽  
Genetic Contributions ◽  
Prospective Parents

Preconception genetic counselling offers an opportunity for prospective parents to understand and adjust to the medical, familial, and psychosocial implications of genetic contributions to pregnancy outcomes. In this paper, we will illustrate how preconception genetic counselling made a difference to a Filipino couple with a previous child diagnosed with Trisomy 18.

scholarly journals Family history of gynecological disorders, time to pregnancy and pregnancy outcomes

2018 ◽  
Vol 110 (4) ◽  
pp. e147
Author(s):  
L.A. Bishop ◽  
K. Kim ◽  
S. Mumford ◽  
L. Sjaarda ◽  
N. Perkins ◽  
...  
Keyword(s):  
Family History ◽  
Pregnancy Outcomes ◽  
Time To Pregnancy ◽  
Gynecological Disorders ◽  
History Of

scholarly journals Prevalence of Pathogenic Germline DICER1 Variants in Young Individuals Thyroidectomised Due to Goitre – A National Danish Cohort

2021 ◽  
Vol 12 ◽  
Author(s):  
Mays Altaraihi ◽  
Thomas van Overeem Hansen ◽  
Eric Santoni-Rugiu ◽  
Maria Rossing ◽  
Åse Krogh Rasmussen ◽  
...  
Keyword(s):  
Family History ◽  
Genetic Counselling ◽  
Multinodular Goitre ◽  
Nodular Goitre ◽  
Gene Testing ◽  
History Of ◽  
Age Limit ◽  
Dicer1 Syndrome ◽  
Time Of Operation ◽  
Common Manifestation

IntroductionDICER1 syndrome encompasses a variety of benign and malignant manifestations including multinodular goitre, which is the most common manifestation among individuals carrying pathogenic DICER1 variants. This is the first study estimating the prevalence of pathogenic DICER1 variants in young individuals with multinodular goitre.MethodsDanish individuals diagnosed with nodular goitre based on thyroidectomy samples in 2001-2016 with the age limit at time of operation being ≤ 25 years were offered germline DICER1 gene testing.ResultsSix of 46 individuals, 13% (CI [3.3;22.7], p <0.05), diagnosed with nodular goitre on the basis of thyroidectomy samples under the age of 25 years had pathogenic germline variants in DICER1. They were found in different pathoanatomical nodular goitre cohorts i.e. nodular goitre (n=2), colloid nodular goitre (n=3) and hyperplastic nodular goitre (n=1).ConclusionsWe recommend referral of patients thyroidectomised due to goitre aged <21 years and patients thyroidectomised due to goitre aged <25 years with a family history of goitre to genetic counselling. Patients of all ages thyroidectomised due to goitre, who are affected by another DICER1 manifestation should be referred to genetic counselling.

scholarly journals The impact of genetic counselling on risk perception and mental health in women with a family history of breast cancer

1999 ◽  
Vol 79 (5-6) ◽  
pp. 868-874 ◽  
Author(s):  
M Watson ◽  
S Lloyd ◽  
J Davidson ◽  
L Meyer ◽  
R Eeles ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Mental Health ◽  
Risk Perception ◽  
Family History ◽  
Genetic Counselling ◽  
History Of ◽  
The Impact

scholarly journals Prevalence of Hereditary Cancer Susceptibility Syndromes (HCSS) in Acute Lymphoblastic Leukemia (ALL): A Cross-Sectional Study in a Highly Consanguineous Population.

2021 ◽  
Author(s):  
Sara Aslam ◽  
Shabana NA ◽  
Mehboob Ahmed
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Family History ◽  
Genetic Counselling ◽  
Cancer Susceptibility ◽  
Lymphoblastic Leukemia ◽  
P Value ◽  
Early Age ◽  
Parental Consanguinity ◽  
History Of ◽  
History Of Cancer

Abstract Background: Hereditary cancer susceptibility syndrome (HCSS) has been reported to impact cancer predisposition at an early age, therefore, identification of HCSS has found to be crucial for surveillance, managing therapeutic interventions and referring the patients and their families for genetic counselling. The aims of this study are to assess the prevalence of HCSS as hereditary leukemia and hematologic malignancy syndrome by using ACMG guidelines and to assess parental consanguinity as the criterion for referring patients for the genetic counselling. Methods: A total of 300 acute lymphoblastic leukemia subjects were recruited from the Children’s Hospital, Lahore, Pakistan during the period of December 2018 to September 2019. Structured self-reporting questionnaire based on family and medical history of the disease was utilized for the data collection.Results: In our cohort, 60.40% of ALL patients were identified to have HCSS and among them 40.65% patients solely fulfil the criteria due to the presence of parental consanguinity. Parental consanguinity was shown to have protective impact on the onset at early age of disease [OD=0.44 (0.25-0.77), p-value= 0.00] while family history of cancer increase the risk of cardiotoxicity [OD= 2.46 (1.15-5.24), p-value=0.02]. Parental consanguinity in the population shows no significant impact on the family history of cancer and the number of relatives with cancer. Conclusions: The higher prevalence of HCSS in Pakistani population is attributed to the presence of parental consanguinity in more than 50% of the patients when assessed through ACMG guidelines. Our study suggests revisiting ACMG guidelines for the criterion of parental consanguinity in the highly consanguineous population and formulating the score based criteria for the identification of inherited ALL for genetic counselling.

scholarly journals Mapping psychosocial interventions in familial colorectal cancer: a rapid systematic review

BMC Cancer ◽  
2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Andrada Ciucă ◽  
Ramona Moldovan ◽  
Adriana Băban
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Genetic Counselling ◽  
Psychosocial Interventions ◽  
Rapid Review ◽  
Familial Colorectal Cancer ◽  
Genetic Syndrome ◽  
History Of ◽  
Behavioural Aspects ◽  
The Impact

Abstract Background Approximately 5% of colorectal cancer (CRC) cases are part of a well-defined inherited genetic syndrome and up to approximately 30% of these cases have a clinically defined familial basis. Psychosocial interventions in familial colorectal cancer address aspects mainly focused on affective, cognitive and behavioural outcomes. The present review aims to systematically map out the available psychosocial interventions for individuals with a family history of CRC and describe the current state of the research. Methods An extensive electronic search was conducted to investigate the literature published until June 2020. Inclusion criteria consisted of quantitative studies published in English that explored the impact of psychosocial interventions for familial CRC, clearly defined the psychosocial intervention offered and included participants with a family history of CRC. Results The analysis included 52 articles. Genetic counselling, educational interventions, psychological interventions and multimodal interventions were identified across the studies. In terms of diagnoses, Lynch Syndrome, Familial Adenomatous Polyposis, Familial Colorectal Cancer were the main conditions included in the studies. Affective, cognitive, behavioural aspects and quality of life emerged as the most frequently explored outcomes. The studies included individuals with both personal and familial history of CRC or family history alone. Conclusions Our rapid review provides an overview of the literature exploring the impact of psychosocial interventions for familial CRC. The psychosocial interventions identified had an overwhelmingly positive impact across all types of outcomes measured. Genetic counselling appeared to be most beneficial, and this is expected as it is purposively designed to address genetic conditions. Further quantitative analysis of primary empirical research is needed to determine the efficacy and effectiveness of psychosocial interventions as well as the mechanisms through which they exert their effect.

scholarly journals Genetic counselling in a national referral centre for pulmonary hypertension

2015 ◽  
Vol 47 (2) ◽  
pp. 541-552 ◽  
Author(s):  
Barbara Girerd ◽  
David Montani ◽  
Xavier Jaïs ◽  
Mélanie Eyries ◽  
Azzedine Yaici ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Family History ◽  
Genetic Counselling ◽  
Screening Programme ◽  
Genetic Diagnosis ◽  
Referral Centre ◽  
Mutation Carriers ◽  
Predisposing Genes ◽  
History Of ◽  
Pulmonary Arterial

Genetic causes of pulmonary arterial hypertension (PAH) and pulmonary veno-occlusive disease (PVOD) have been identified, leading to a growing need for genetic counselling.Between 2003 and 2014, genetic counselling was offered to 529 PAH and 100 PVOD patients at the French Referral Centre for Pulmonary Hypertension.Mutations in PAH-predisposing genes were identified in 72 patients presenting as sporadic PAH (17% of cases; 62 mutations in BMPR2, nine in ACVRL1 (ALK1) and one in ENG) and in 94 patients with a PAH family history (89% of cases; 89 mutations in BMPR2, three in ACVRL1 (ALK1) and two in KCNK3). Bi-allelic mutations in EIF2AK4 were identified in all patients with a family history of PVOD (n=19) and in seven patients (8.6%) presenting as sporadic PVOD. Pre-symptomatic genetic diagnosis was offered to 272 relatives of heritable PAH patients, identifying mutations in 36.4% of them. A screening programme is now offered to asymptomatic mutation carriers to detect PAH in an early phase and to identify predictors of outcomes in asymptomatic BMPR2 mutation carriers. BMPR2 screening allowed us to offer pre-implantation diagnosis to two couples with a BMPR2 mutation.Genetic counselling can be implemented in pulmonary hypertension centres.

Sign in / Sign up

Export Citation Format

Share Document